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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the Aliases tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs6493068

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr15:42878595 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.36754 (91675/249428, GnomAD_exome)
G=0.48393 (60766/125568, TOPMED)
G=0.37841 (45681/120718, ExAC) (+ 9 more)
A=0.4227 (33267/78696, PAGE_STUDY)
G=0.4549 (14186/31188, GnomAD)
G=0.4694 (5805/12366, GO-ESP)
A=0.485 (2430/5008, 1000G)
G=0.253 (1133/4480, Estonian)
G=0.310 (1194/3854, ALSPAC)
G=0.301 (1116/3708, TWINSUK)
G=0.42 (259/614, Vietnamese)
G=0.33 (198/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TTBK2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 15 NC_000015.10:g.42878595A>C
GRCh38.p12 chr 15 NC_000015.10:g.42878595A>G
GRCh37.p13 chr 15 NC_000015.9:g.43170793A>C
GRCh37.p13 chr 15 NC_000015.9:g.43170793A>G
TTBK2 RefSeqGene NG_012664.1:g.47215T>G
TTBK2 RefSeqGene NG_012664.1:g.47215T>C
Gene: TTBK2, tau tubulin kinase 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TTBK2 transcript NM_173500.4:c.23T>G L [CTG] > R [CGG] Coding Sequence Variant
tau-tubulin kinase 2 NP_775771.3:p.Leu8Arg L (Leu) > R (Arg) Missense Variant
TTBK2 transcript NM_173500.4:c.23T>C L [CTG] > P [CCG] Coding Sequence Variant
tau-tubulin kinase 2 NP_775771.3:p.Leu8Pro L (Leu) > P (Pro) Missense Variant
TTBK2 transcript variant X5 XM_024449851.1:c.-1351= N/A 5 Prime UTR Variant
TTBK2 transcript variant X6 XM_006720403.4:c.-358= N/A 5 Prime UTR Variant
TTBK2 transcript variant X7 XM_005254173.5:c.-37= N/A 5 Prime UTR Variant
TTBK2 transcript variant X8 XM_017021950.2:c. N/A Genic Upstream Transcript Variant
TTBK2 transcript variant X1 XM_005254171.5:c.189T>G A [GCT] > A [GCG] Coding Sequence Variant
tau-tubulin kinase 2 isoform X1 XP_005254228.1:p.Ala63= A (Ala) > A (Ala) Synonymous Variant
TTBK2 transcript variant X1 XM_005254171.5:c.189T>C A [GCT] > A [GCC] Coding Sequence Variant
tau-tubulin kinase 2 isoform X1 XP_005254228.1:p.Ala63= A (Ala) > A (Ala) Synonymous Variant
TTBK2 transcript variant X2 XM_024449849.1:c.23T>G L [CTG] > R [CGG] Coding Sequence Variant
tau-tubulin kinase 2 isoform X2 XP_024305617.1:p.Leu8Arg L (Leu) > R (Arg) Missense Variant
TTBK2 transcript variant X2 XM_024449849.1:c.23T>C L [CTG] > P [CCG] Coding Sequence Variant
tau-tubulin kinase 2 isoform X2 XP_024305617.1:p.Leu8Pro L (Leu) > P (Pro) Missense Variant
TTBK2 transcript variant X3 XM_024449850.1:c.23T>G L [CTG] > R [CGG] Coding Sequence Variant
tau-tubulin kinase 2 isoform X2 XP_024305618.1:p.Leu8Arg L (Leu) > R (Arg) Missense Variant
TTBK2 transcript variant X3 XM_024449850.1:c.23T>C L [CTG] > P [CCG] Coding Sequence Variant
tau-tubulin kinase 2 isoform X2 XP_024305618.1:p.Leu8Pro L (Leu) > P (Pro) Missense Variant
TTBK2 transcript variant X4 XM_006720402.4:c.156T>G A [GCT] > A [GCG] Coding Sequence Variant
tau-tubulin kinase 2 isoform X3 XP_006720465.1:p.Ala52= A (Ala) > A (Ala) Synonymous Variant
TTBK2 transcript variant X4 XM_006720402.4:c.156T>C A [GCT] > A [GCC] Coding Sequence Variant
tau-tubulin kinase 2 isoform X3 XP_006720465.1:p.Ala52= A (Ala) > A (Ala) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 136092 )
ClinVar Accession Disease Names Clinical Significance
RCV000118718.5 not specified Benign
RCV000307515.1 Spinocerebellar Ataxia, Dominant Benign
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 249428 A=0.63246 G=0.36754
gnomAD - Exomes European Sub 134714 A=0.69722 G=0.30278
gnomAD - Exomes Asian Sub 48576 A=0.5527 G=0.4473
gnomAD - Exomes American Sub 34522 A=0.7055 G=0.2945
gnomAD - Exomes African Sub 15484 A=0.1348 G=0.8652
gnomAD - Exomes Ashkenazi Jewish Sub 10070 A=0.6404 G=0.3596
gnomAD - Exomes Other Sub 6062 A=0.674 G=0.326
TopMed Global Study-wide 125568 A=0.51607 G=0.48393
ExAC Global Study-wide 120718 A=0.62159 G=0.37841
ExAC Europe Sub 73338 A=0.6950 G=0.3050
ExAC Asian Sub 25104 A=0.5521 G=0.4479
ExAC American Sub 11570 A=0.7065 G=0.2935
ExAC African Sub 9806 A=0.146 G=0.854
ExAC Other Sub 900 A=0.67 G=0.33
The PAGE Study Global Study-wide 78696 A=0.4227 G=0.5773
The PAGE Study AfricanAmerican Sub 32514 A=0.1609 G=0.8391
The PAGE Study Mexican Sub 10808 A=0.6993 G=0.3007
The PAGE Study Asian Sub 8318 A=0.602 G=0.398
The PAGE Study PuertoRican Sub 7918 A=0.571 G=0.429
The PAGE Study NativeHawaiian Sub 4532 A=0.527 G=0.473
The PAGE Study Cuban Sub 4230 A=0.603 G=0.397
The PAGE Study Dominican Sub 3828 A=0.445 G=0.555
The PAGE Study CentralAmerican Sub 2450 A=0.653 G=0.347
The PAGE Study SouthAmerican Sub 1982 A=0.729 G=0.271
The PAGE Study NativeAmerican Sub 1260 A=0.631 G=0.369
The PAGE Study SouthAsian Sub 856 A=0.54 G=0.46
gnomAD - Genomes Global Study-wide 31188 A=0.5451 G=0.4549
gnomAD - Genomes European Sub 18796 A=0.7126 G=0.2874
gnomAD - Genomes African Sub 8644 A=0.143 G=0.857
gnomAD - Genomes East Asian Sub 1540 A=0.599 G=0.401
gnomAD - Genomes Other Sub 1070 A=0.646 G=0.354
gnomAD - Genomes American Sub 848 A=0.68 G=0.32
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.64 G=0.36
GO Exome Sequencing Project Global Study-wide 12366 A=0.5306 G=0.4694
GO Exome Sequencing Project European American Sub 8336 A=0.696 G=0.304
GO Exome Sequencing Project African American Sub 4030 A=0.188 G=0.812
1000Genomes Global Study-wide 5008 A=0.485 G=0.515
1000Genomes African Sub 1322 A=0.041 G=0.959
1000Genomes East Asian Sub 1008 A=0.584 G=0.416
1000Genomes Europe Sub 1006 A=0.720 G=0.280
1000Genomes South Asian Sub 978 A=0.58 G=0.42
1000Genomes American Sub 694 A=0.71 G=0.29
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.747 G=0.253
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.690 G=0.310
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.699 G=0.301
A Vietnamese Genetic Variation Database Global Study-wide 614 A=0.58 G=0.42
Northern Sweden ACPOP Study-wide 600 A=0.67 G=0.33
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= C G Note
GRCh38.p12 chr 15 NC_000015.10:g.42...

NC_000015.10:g.42878595=

NC_000015.10:g.42...

NC_000015.10:g.42878595A>C

NC_000015.10:g.42...

NC_000015.10:g.42878595A>G

GRCh37.p13 chr 15 NC_000015.9:g.431...

NC_000015.9:g.43170793=

NC_000015.9:g.431...

NC_000015.9:g.43170793A>C

NC_000015.9:g.431...

NC_000015.9:g.43170793A>G

TTBK2 RefSeqGene NG_012664.1:g.47215= NG_012664.1:g.472...

NG_012664.1:g.47215T>G

NG_012664.1:g.472...

NG_012664.1:g.47215T>C

TTBK2 transcript NM_173500.4:c.23= NM_173500.4:c.23T>G NM_173500.4:c.23T>C
TTBK2 transcript NM_173500.3:c.23= NM_173500.3:c.23T>G NM_173500.3:c.23T>C
TTBK2 transcript variant X1 XM_005254171.5:c....

XM_005254171.5:c.189=

XM_005254171.5:c....

XM_005254171.5:c.189T>G

XM_005254171.5:c....

XM_005254171.5:c.189T>C

TTBK2 transcript variant X1 XM_005254171.1:c....

XM_005254171.1:c.189=

XM_005254171.1:c....

XM_005254171.1:c.189T>G

XM_005254171.1:c....

XM_005254171.1:c.189T>C

TTBK2 transcript variant X7 XM_005254173.5:c....

XM_005254173.5:c.-37=

XM_005254173.5:c....

XM_005254173.5:c.-37T>G

XM_005254173.5:c....

XM_005254173.5:c.-37T>C

TTBK2 transcript variant X3 XM_005254173.1:c....

XM_005254173.1:c.-37=

XM_005254173.1:c....

XM_005254173.1:c.-37T>G

XM_005254173.1:c....

XM_005254173.1:c.-37T>C

TTBK2 transcript variant X6 XM_006720403.4:c....

XM_006720403.4:c.-358=

XM_006720403.4:c....

XM_006720403.4:c.-358T>G

XM_006720403.4:c....

XM_006720403.4:c.-358T>C

TTBK2 transcript variant X4 XM_006720402.4:c....

XM_006720402.4:c.156=

XM_006720402.4:c....

XM_006720402.4:c.156T>G

XM_006720402.4:c....

XM_006720402.4:c.156T>C

TTBK2 transcript variant X5 XM_024449851.1:c....

XM_024449851.1:c.-1351=

XM_024449851.1:c....

XM_024449851.1:c.-1351T>G

XM_024449851.1:c....

XM_024449851.1:c.-1351T>C

TTBK2 transcript variant X2 XM_024449849.1:c.23= XM_024449849.1:c....

XM_024449849.1:c.23T>G

XM_024449849.1:c....

XM_024449849.1:c.23T>C

TTBK2 transcript variant X3 XM_024449850.1:c.23= XM_024449850.1:c....

XM_024449850.1:c.23T>G

XM_024449850.1:c....

XM_024449850.1:c.23T>C

tau-tubulin kinase 2 NP_775771.3:p.Leu8= NP_775771.3:p.Leu...

NP_775771.3:p.Leu8Arg

NP_775771.3:p.Leu...

NP_775771.3:p.Leu8Pro

tau-tubulin kinase 2 isoform X1 XP_005254228.1:p....

XP_005254228.1:p.Ala63=

XP_005254228.1:p....

XP_005254228.1:p.Ala63=

XP_005254228.1:p....

XP_005254228.1:p.Ala63=

tau-tubulin kinase 2 isoform X3 XP_006720465.1:p....

XP_006720465.1:p.Ala52=

XP_006720465.1:p....

XP_006720465.1:p.Ala52=

XP_006720465.1:p....

XP_006720465.1:p.Ala52=

tau-tubulin kinase 2 isoform X2 XP_024305617.1:p....

XP_024305617.1:p.Leu8=

XP_024305617.1:p....

XP_024305617.1:p.Leu8Arg

XP_024305617.1:p....

XP_024305617.1:p.Leu8Pro

tau-tubulin kinase 2 isoform X2 XP_024305618.1:p....

XP_024305618.1:p.Leu8=

XP_024305618.1:p....

XP_024305618.1:p.Leu8Arg

XP_024305618.1:p....

XP_024305618.1:p.Leu8Pro

Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

114 SubSNP, 12 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10785203 Jul 11, 2003 (116)
2 WI_SSAHASNP ss12328766 Jul 11, 2003 (116)
3 PERLEGEN ss23962029 Sep 20, 2004 (123)
4 CANCER-GENOME ss48533530 Mar 15, 2006 (126)
5 PERLEGEN ss69174859 May 18, 2007 (127)
6 AFFY ss74808443 Aug 16, 2007 (128)
7 ILLUMINA ss75150611 Dec 06, 2007 (129)
8 1000GENOMES ss108771119 Jan 23, 2009 (130)
9 1000GENOMES ss114091734 Jan 25, 2009 (130)
10 ILLUMINA-UK ss118205013 Feb 14, 2009 (130)
11 SEATTLESEQ ss159730528 Dec 01, 2009 (131)
12 ILLUMINA ss160779865 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss169278510 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss171016106 Jul 04, 2010 (132)
15 ILLUMINA ss174016905 Jul 04, 2010 (132)
16 BUSHMAN ss200772174 Jul 04, 2010 (132)
17 BCM-HGSC-SUB ss207377633 Jul 04, 2010 (132)
18 1000GENOMES ss226863247 Jul 14, 2010 (132)
19 1000GENOMES ss236758066 Jul 15, 2010 (132)
20 1000GENOMES ss243148156 Jul 15, 2010 (132)
21 BL ss254937729 May 09, 2011 (134)
22 GMI ss282231691 May 04, 2012 (137)
23 GMI ss286943167 Apr 25, 2013 (138)
24 ILLUMINA ss481260765 May 04, 2012 (137)
25 ILLUMINA ss481285008 May 04, 2012 (137)
26 ILLUMINA ss482269441 Sep 08, 2015 (146)
27 ILLUMINA ss485425707 May 04, 2012 (137)
28 1000GENOMES ss491081409 May 04, 2012 (137)
29 EXOME_CHIP ss491493422 May 04, 2012 (137)
30 CLINSEQ_SNP ss491699338 May 04, 2012 (137)
31 ILLUMINA ss537356177 Sep 08, 2015 (146)
32 TISHKOFF ss564445374 Apr 25, 2013 (138)
33 SSMP ss660163217 Apr 25, 2013 (138)
34 NHLBI-ESP ss713224714 Apr 25, 2013 (138)
35 ILLUMINA ss778570203 Sep 08, 2015 (146)
36 ILLUMINA ss780707809 Sep 08, 2015 (146)
37 ILLUMINA ss783158284 Sep 08, 2015 (146)
38 ILLUMINA ss783382485 Sep 08, 2015 (146)
39 ILLUMINA ss784114121 Sep 08, 2015 (146)
40 ILLUMINA ss832417609 Sep 08, 2015 (146)
41 ILLUMINA ss834027214 Sep 08, 2015 (146)
42 EVA-GONL ss991725285 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1067551761 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1080078613 Aug 21, 2014 (142)
45 1000GENOMES ss1353219005 Aug 21, 2014 (142)
46 DDI ss1427607936 Apr 01, 2015 (144)
47 CLINVAR ss1457615652 Nov 23, 2014 (142)
48 EVA_GENOME_DK ss1577581952 Apr 01, 2015 (144)
49 EVA_FINRISK ss1584093574 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1632869484 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1675863517 Apr 01, 2015 (144)
52 EVA_EXAC ss1691790485 Apr 01, 2015 (144)
53 EVA_DECODE ss1695740223 Apr 01, 2015 (144)
54 EVA_MGP ss1711395294 Apr 01, 2015 (144)
55 EVA_SVP ss1713485385 Apr 01, 2015 (144)
56 ILLUMINA ss1752160111 Sep 08, 2015 (146)
57 ILLUMINA ss1752160112 Sep 08, 2015 (146)
58 HAMMER_LAB ss1808177125 Sep 08, 2015 (146)
59 ILLUMINA ss1917895513 Feb 12, 2016 (147)
60 WEILL_CORNELL_DGM ss1935130301 Feb 12, 2016 (147)
61 ILLUMINA ss1946391844 Feb 12, 2016 (147)
62 ILLUMINA ss1959607702 Feb 12, 2016 (147)
63 JJLAB ss2028344935 Sep 14, 2016 (149)
64 USC_VALOUEV ss2156743761 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2206284897 Dec 20, 2016 (150)
66 TOPMED ss2370920639 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2628666594 Nov 08, 2017 (151)
68 ILLUMINA ss2633221918 Nov 08, 2017 (151)
69 GRF ss2701210199 Nov 08, 2017 (151)
70 GNOMAD ss2741185909 Nov 08, 2017 (151)
71 GNOMAD ss2749287715 Nov 08, 2017 (151)
72 GNOMAD ss2934184247 Nov 08, 2017 (151)
73 AFFY ss2985039592 Nov 08, 2017 (151)
74 AFFY ss2985672230 Nov 08, 2017 (151)
75 SWEGEN ss3013183487 Nov 08, 2017 (151)
76 ILLUMINA ss3021627312 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3027996323 Nov 08, 2017 (151)
78 TOPMED ss3225982400 Nov 08, 2017 (151)
79 TOPMED ss3225982401 Nov 08, 2017 (151)
80 CSHL ss3351089322 Nov 08, 2017 (151)
81 ILLUMINA ss3627347473 Oct 12, 2018 (152)
82 ILLUMINA ss3627347474 Oct 12, 2018 (152)
83 ILLUMINA ss3631215381 Oct 12, 2018 (152)
84 ILLUMINA ss3633095404 Oct 12, 2018 (152)
85 ILLUMINA ss3633799948 Oct 12, 2018 (152)
86 ILLUMINA ss3634603671 Oct 12, 2018 (152)
87 ILLUMINA ss3634603672 Oct 12, 2018 (152)
88 ILLUMINA ss3635488906 Oct 12, 2018 (152)
89 ILLUMINA ss3636293751 Oct 12, 2018 (152)
90 ILLUMINA ss3637240164 Oct 12, 2018 (152)
91 ILLUMINA ss3638082011 Oct 12, 2018 (152)
92 ILLUMINA ss3640310995 Oct 12, 2018 (152)
93 ILLUMINA ss3640310996 Oct 12, 2018 (152)
94 ILLUMINA ss3643066399 Oct 12, 2018 (152)
95 ILLUMINA ss3644644951 Oct 12, 2018 (152)
96 OMUKHERJEE_ADBS ss3646473458 Oct 12, 2018 (152)
97 URBANLAB ss3650341598 Oct 12, 2018 (152)
98 ILLUMINA ss3652027545 Oct 12, 2018 (152)
99 ILLUMINA ss3653811001 Oct 12, 2018 (152)
100 EGCUT_WGS ss3680328789 Jul 13, 2019 (153)
101 EVA_DECODE ss3697776030 Jul 13, 2019 (153)
102 ILLUMINA ss3725494389 Jul 13, 2019 (153)
103 ACPOP ss3740873227 Jul 13, 2019 (153)
104 ILLUMINA ss3744419072 Jul 13, 2019 (153)
105 ILLUMINA ss3744904218 Jul 13, 2019 (153)
106 ILLUMINA ss3744904219 Jul 13, 2019 (153)
107 EVA ss3753010184 Jul 13, 2019 (153)
108 PAGE_CC ss3771826152 Jul 13, 2019 (153)
109 ILLUMINA ss3772402883 Jul 13, 2019 (153)
110 ILLUMINA ss3772402884 Jul 13, 2019 (153)
111 PACBIO ss3787830237 Jul 13, 2019 (153)
112 PACBIO ss3792845212 Jul 13, 2019 (153)
113 PACBIO ss3797729696 Jul 13, 2019 (153)
114 KHV_HUMAN_GENOMES ss3818328949 Jul 13, 2019 (153)
115 1000Genomes NC_000015.9 - 43170793 Oct 12, 2018 (152)
116 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 43170793 Oct 12, 2018 (152)
117 Genetic variation in the Estonian population NC_000015.9 - 43170793 Oct 12, 2018 (152)
118 ExAC NC_000015.9 - 43170793 Oct 12, 2018 (152)
119 gnomAD - Genomes NC_000015.9 - 43170793 Jul 13, 2019 (153)
120 gnomAD - Exomes NC_000015.9 - 43170793 Jul 13, 2019 (153)
121 GO Exome Sequencing Project NC_000015.9 - 43170793 Oct 12, 2018 (152)
122 Northern Sweden NC_000015.9 - 43170793 Jul 13, 2019 (153)
123 The PAGE Study NC_000015.10 - 42878595 Jul 13, 2019 (153)
124 TopMed NC_000015.10 - 42878595 Oct 12, 2018 (152)
125 UK 10K study - Twins NC_000015.9 - 43170793 Oct 12, 2018 (152)
126 A Vietnamese Genetic Variation Database NC_000015.9 - 43170793 Jul 13, 2019 (153)
127 ClinVar RCV000118718.5 Oct 12, 2018 (152)
128 ClinVar RCV000307515.1 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs52823398 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3225982400 NC_000015.10:42878594:A:C NC_000015.10:42878594:A:C (self)
ss108771119, ss114091734, ss118205013, ss169278510, ss171016106, ss200772174, ss207377633, ss254937729, ss282231691, ss286943167, ss481260765, ss491699338, ss1695740223, ss1713485385, ss3643066399 NC_000015.8:40958084:A:G NC_000015.10:42878594:A:G (self)
66281966, 36795324, 26067037, 2161071, 180834282, 10449349, 1369080, 14158092, 36795324, 8186472, ss226863247, ss236758066, ss243148156, ss481285008, ss482269441, ss485425707, ss491081409, ss491493422, ss537356177, ss564445374, ss660163217, ss713224714, ss778570203, ss780707809, ss783158284, ss783382485, ss784114121, ss832417609, ss834027214, ss991725285, ss1067551761, ss1080078613, ss1353219005, ss1427607936, ss1577581952, ss1584093574, ss1632869484, ss1675863517, ss1691790485, ss1711395294, ss1752160111, ss1752160112, ss1808177125, ss1917895513, ss1935130301, ss1946391844, ss1959607702, ss2028344935, ss2156743761, ss2370920639, ss2628666594, ss2633221918, ss2701210199, ss2741185909, ss2749287715, ss2934184247, ss2985039592, ss2985672230, ss3013183487, ss3021627312, ss3351089322, ss3627347473, ss3627347474, ss3631215381, ss3633095404, ss3633799948, ss3634603671, ss3634603672, ss3635488906, ss3636293751, ss3637240164, ss3638082011, ss3640310995, ss3640310996, ss3644644951, ss3646473458, ss3652027545, ss3653811001, ss3680328789, ss3740873227, ss3744419072, ss3744904218, ss3744904219, ss3753010184, ss3772402883, ss3772402884, ss3787830237, ss3792845212, ss3797729696 NC_000015.9:43170792:A:G NC_000015.10:42878594:A:G (self)
RCV000118718.5, RCV000307515.1, 1047621, 128081843, ss1457615652, ss2206284897, ss3027996323, ss3225982401, ss3650341598, ss3697776030, ss3725494389, ss3771826152, ss3818328949 NC_000015.10:42878594:A:G NC_000015.10:42878594:A:G (self)
ss10785203, ss12328766 NT_010194.15:13960403:A:G NC_000015.10:42878594:A:G (self)
ss23962029, ss48533530, ss69174859, ss74808443, ss75150611, ss159730528, ss160779865, ss174016905 NT_010194.17:13961349:A:G NC_000015.10:42878594:A:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs6493068

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post308+0fe9b3b